A timeline of symptom onset and disease progression in CLN3 disease

First publication for 2026! Congratulations to Ineka Whiteman et al.

Summary: CLN3 disease is also called Juvenile Neuronal Ceroid Lipofuscinosis (JNCL) or Batten disease. CLN3 is a rare disorder that causes progressive deterioration of the nervous system. This is termed neurodegenerative. It is caused by genetic variations in a gene called the CLN3 gene.

At the moment, there is not very much information on how the disease progresses. This is called the ‘natural history’ of the condition. The aim of this research was to help healthcare professionals and families understand more about how the disease evolves.

A literature review was done in June 2023. Nine studies were found that described one or more clinical symptoms of CLN3 disease. The data described 423 patients with CLN3 disease between 4 and 39 years. When put together, these studies described thirteen main symptoms. This information showed the average age and in what order each symptom started.

Vision problems are usually the first symptom to appear around six years of age. A decline in mental capabilities (cognitive decline) usually begins around nine years of age, followed by seizures by the age of ten. By the age of 11, children usually experience total visual impairment. Around the same age, children experience a gradual decline in motor skills and difficulties with speech and language. By the age of 19, individuals are likely to rely on a wheelchair and may develop problems with their hearts. People with CLN3 disease tend to pass away between 20 and 30 years of age.

This study shows how important it is to collect detailed clinical information from individuals with CLN3. More information about a condition helps us understand how the disease progresses. This helps us to prepare for future health needs and find better treatments.

You can read the full paper here: Whiteman, I.T., Cook, A.L., Augustine, E.F. et al. A timeline of symptom onset and disease progression in CLN3 disease. Orphanet J Rare Dis  (2026). https://doi.org/10.1186/s13023-025-04174-5